Varaico: Literature-Extracted Genetic Variants

Gene:DNTTIP1
Variant:p.R231I

DNTTIP1

25 papers

RefSeq Summary

DNTTIP1 binds DNA and enhances the activity of terminal deoxynucleotidyltransferase (TDT, or DNTT; MIM 187410), a DNA polymerase that catalyzes the polymerization of DNA in the absence of a DNA templa...

Pfam Domains

DNTTIP1_dimeraa 65–132UCSCDNTTIP1 dimerisation domain
TdIF1_2ndaa 210–307UCSCTdIF1, C-terminal

Gene Aliases

HGNC Name

deoxynucleotidyltransferase terminal interacting protein 1

HGNC Previous Symbol

C20orf167

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_052951.3
p.R231I
c.692G>T
Surrounding Variants
1 paper
NM_052951.3
p.G227D
c.680G>A
1 paper
NM_052951.3
p.M225insFs
c.674_675insG
1 paper
NM_052951.3
p.R218*
c.652C>T
1 paper
NM_052951.3
p.K201_W202Splc
c.604-7T>G
1 paper
NM_052951.3
p.R180Q
c.539G>A
1 paper
NM_052951.3
p.G160*
c.478G>T
1 paper
NM_052951.3
p.E142Q
c.424G>C
1 paper
NM_052951.3
p.E272G
c.815A>G
1 paper
NM_052951.3
p.E272V
c.815A>T
1 paper
NM_052951.3
p.R275W
c.823C>T
1 paper
NM_052951.3
p.R308T
c.923G>C
1 paper
NM_052951.3
p.R315Q
c.944G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."